Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000167198 | SCV000218035 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-22 | criteria provided, single submitter | clinical testing | The p.N2486S variant (also known as c.7457A>G), located in coding exon 14 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7457. The asparagine at codon 2486 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Gene |
RCV000255521 | SCV000321482 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31131967) |
| Color Diagnostics, |
RCV000167198 | SCV000689048 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000637396 | SCV000758852 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2024-03-11 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2486 of the BRCA2 protein (p.Asn2486Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 187467). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000255521 | SCV001133898 | uncertain significance | not provided | 2018-12-03 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003454420 | SCV004186065 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2023-11-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752]. |
| All of Us Research Program, |
RCV003454420 | SCV004844407 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2023-08-08 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV004567333 | SCV005059007 | uncertain significance | Familial cancer of breast | 2024-03-08 | criteria provided, single submitter | clinical testing |